1. Gene
  2. Ehmt1 - euchromatic histone methyltransferase 1 Gene

Ehmt1 - euchromatic histone methyltransferase 1 Gene

中文名称:常染色质组蛋白甲基转移酶 1

种属: Mus musculus

同用名: GLP; GLP1; KMT1D; mKIAA1876; D330003E03; Eu-HMTase1; 9230102N17Rik

基因 ID: 77683 | 基因类型: protein coding

关于 Ehmt1

Chromosome 2: 24,679,940-24,809,626 reverse strand.GRCm39:CM000995.3

This gene has 18 transcripts (splice variants), 314 orthologues, 20 paralogues and is associated with 82 phenotypes. Ubiquitous expression in CNS E11.5 (RPKM 26.6), whole brain E14.5 (RPKM 23.) and 28 other tissues.

功能概要

该基因编码的蛋白可启动 C2H2 锌指结构域结合活性;组蛋白甲基转移酶活性(H3-K27 特异性);和组蛋白甲基转移酶活性(H3-K9 特异性)。参与多个过程,包括大分子甲基化;转录的负调控,DNA 模板化;和冷诱导产热的正调节。在 RNA 聚合酶 II 的转录负调节上游或负调节内起作用。位于核内。以多种结构表达,包括消化系统;前肢;外皮系统;神经系统;和呼吸系统。用于研究 Kleefstra 综合征 1。与 Kleefstra 综合征和 Kleefstra 综合征 1 有关的该基因的人类直向同源基因。与人类 EHMT1(常染色质组蛋白赖氨酸甲基转移酶 1)直向同源。 [由基因组资源联盟提供,2022 年 4 月]

Enables C2H2 zinc finger domain binding activity; Histone Methyltransferase activity (H3-K27 specific); and Histone Methyltransferase activity (H3-K9 specific). Involved in several processes, including macromolecule methylation; negative regulation of transcription, DNA-templated; and positive regulation of cold-induced thermogenesis. Acts upstream of or within negative regulation of transcription by RNA polymerase II. Located in nucleus. Is expressed in several structures, including alimentary system; forelimb; integumental system; nervous system; and respiratory system. Used to study Kleefstra syndrome 1. Human ortholog(s) of this gene implicated in Kleefstra syndrome and Kleefstra syndrome 1. Orthologous to human EHMT1 (euchromatic histone lysine methyltransferase 1). [provided by Alliance of Genome Resources, Apr 2022]

Ehmt1 基因产物(4)

mRNA Protein Name
NM_001012518.3 NP_001012536.2 histone-lysine N-methyltransferase EHMT1 isoform 1
NM_001109687.2 NP_001103157.1 histone-lysine N-methyltransferase EHMT1 isoform 4
NM_001109686.2 NP_001103156.1 histone-lysine N-methyltransferase EHMT1 isoform 3
NM_172545.4 NP_766133.2 histone-lysine N-methyltransferase EHMT1 isoform 2
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables C2H2 zinc finger domain binding IPI
IPI: 通过物理相互作用推断
16702210 MGI
enables histone H3K27 methyltransferase activity IDA
IDA: 通过直接分析推断
15774718 MGI
enables histone H3K9 methyltransferase activity IDA
IDA: 通过直接分析推断
15774718 MGI
enables histone H3K9 methyltransferase activity IMP
IMP: 通过突变表型推断
18818694 MGI
enables protein binding IPI
IPI: 通过物理相互作用推断
15774718 MGI
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in nucleus IDA
IDA: 通过直接分析推断
15774718 MGI
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

Ehmt1 蛋白结构

EHMT_ZBD

EHMT_ZBD: cd20905 (506 - 636)

PHA03095

PHA03095: cl33707 (744 - 970)

ANK

ANK: sd00045 (764 - 793)

ANK

ANK: sd00045 (795 - 826)

Ank_2

Ank_2: pfam12796 (800 - 893)

ANK

ANK: sd00045 (828 - 860)

ANK

ANK: sd00045 (862 - 893)

ANK

ANK: sd00045 (895 - 926)

ANK

ANK: sd00045 (928 - 959)

SET_EHMT1

SET_EHMT1: cd10535 (1026 - 1256)

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  • 1289 a.a.
蛋白主名 其他名称

histone-lysine N-methyltransferase EHMT1

G9a-like protein 1

euchromatic histone-lysine N-methyltransferase 1

lysine N-methyltransferase 1D

直系同源

种属 基因名 来源 基因 ID
Homo sapiens Ehmt1 NCBI NCBI:79813